S28S (p.Ser28Ser) variant of AQP1 (Aquaporin-1)
S28S (p.Ser28Ser) in AQP1 (Aquaporin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S28S (p.Ser28Ser) variant details
- p.Ser28Ser
- rs764092295
- gnomAD 7-30911993-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.349
- CADD 15.10
- Most common in the South Asian population (allele frequency 0.00023)
- Structural context available
- Literature evidence available